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Test Catalog
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Von Hippel-Lindau Syndrome (VHL) Evaluation |
#858 |
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| Type of Disorder: |
Family Cancer Syndromes |
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| Typical Presentation: |
Vision loss, headache, slurred speech, nystagmus, positional vertigo, dysmetria, hypertension, palpitations, tachycardia, nausea |
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| Indications for Testing: |
Cerebellar hemangioblastoma; Retinal hemangioblastoma; Pheochromocytoma; Family history of VHL |
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| Disease(s) tested for: |
Von Hippel-Lindau Syndrome |
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| Test Details |
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| Test Code: |
858 |
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| Profiles that contain this test: |
Pheochromocytoma Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
This test does not detect large deletions in the VHL gene. |
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| Technical Information |
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| Utility: |
Detects mutations in the coding sequence of VHL |
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| Methodology: |
Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of the VHL gene |
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| Reference Value: |
No mutation detected |
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| CPT Code(s): |
83891 (1); 83898 (3); 83904 (3); 83912 (1) |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 mL (pediatric minimum: 2 mL) |
| Collection Tube: |
Lavender top (EDTA) or yellow top (ACD-A) |
| Stability: |
Hemolysis may compromise DNA recovery and integrity after 48 hrs |
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| Storage Conditions: |
For short periods (until shipped) at 4°C |
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| Shipping Conditions: |
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection); ship Monday through Thursday only |
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| Test Turnaround: |
21-28 days |
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